Haploinsufficiency of the RBM22 and SLU7 Genes in Del(5q) Myelodysplastic Syndromes
SMD-RMB22
Impact of the Double Haploinsufficiency of the RBM22 and SLU7 Genes in Del(5q) Myelodysplastic Syndromes Isolated or Not Compared to the Single Haploinsufficiency of RBM22 and Normal Karyotype Myelodysplastic Syndromes.
1 other identifier
observational
100
1 country
3
Brief Summary
Myelodysplastic syndromes (MDS) are malignant hematopathies of the elderly characterized by persistent cytopenias and the presence of deregulated clonal hematopoiesis. The risk of progression to acute myeloid leukemia (AML) is variable. Acquired cytogenetic abnormalities are found in less than 50% of de novo cases and up to 80% in secondary MDS. The deletion of the long arm of chromosome 5 (written del(5q)) is the most common abnormality in MDS (15%). Del(5q) MDS has a good prognosis, with a median survival of 6 years and a 15% risk of progression to AML. However, their life expectancy is shorter than the general population, and the quality of life of patients is diminished. These treatments are not that effective over a long period of time or not well tolerated, and the majority of patients die from causes related to their MDS, such as infections (38%), progression to AML (15%), or bleeding (13%). Two genes, RBM22 and SLU7, coding for proteins of the same complex involved in splicing pre-messenger RNA are carried on the long arm of chromosome 5. We investigate the pronostic impact and the predictive value of the double haploinsufficiency of the RBM22 and SLU7 genes in del(5q) myelodysplastic syndromes isolated or not compared to the single haploinsufficiency of RBM22 and normal karyotype myelodysplastic syndromes.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P50-P75 for all trials
Started Sep 2020
Typical duration for all trials
3 active sites
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
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Study Timeline
Key milestones and dates
Study Start
First participant enrolled
September 30, 2020
CompletedFirst Submitted
Initial submission to the registry
January 6, 2021
CompletedFirst Posted
Study publicly available on registry
January 8, 2021
CompletedPrimary Completion
Last participant's last visit for primary outcome
September 30, 2022
CompletedStudy Completion
Last participant's last visit for all outcomes
September 30, 2023
CompletedJanuary 8, 2021
January 1, 2021
2 years
January 6, 2021
January 6, 2021
Conditions
Keywords
Outcome Measures
Primary Outcomes (1)
prognostic impact on anemia
To evaluate the prognostic impact of the dual loss of an RBM22 and a SLU7 allele compared to the loss of an RBM22 allele alone on anemia, as measured by the hemoglobin level in the blood, between diagnosis and one year in patients with del5q myelodysplastic syndrome.
retrospective study on data collected; 2 years
Secondary Outcomes (3)
prognostic impact on blood count
retrospective study on data collected; 2 years
prognostic impact on progression to leukemia
retrospective study on data collected; 2 years
impact on gene expression and splicing profile
retrospective study on RNA collected; 2 years
Study Arms (5)
normal karyotype
control group
del5q-RBM22neg-SLU7neg
this group is characterized by its karyotype. It presents a 5q deletion, a loss of RBM22, a loss of SLU7.
del5q-RBM22neg-SLU7pos
this group is characterized by its karyotype. It presents a 5q deletion, a loss of RBM22 but no loss of SLU7
del5q-RBM22pos-SLU7neg
this group is characterized by its karyotype. It presents a 5q deletion, and no loss of RBM22, but a loss in SLU7
del5q-RBM22pos-SLU7pos
this group is characterized by its karyotype. It presents a 5q deletion, and no loss of RBM22 nor SLU7
Interventions
investigating the presence of some genes allelles (RBM22, SLU7, RBM27, other on chromosome 5) by FISH, and sequencing of a classical panel of myeloid genes including RBM22, SLU7, for somatic identification of genetic alterationss of the blasts.
Eligibility Criteria
Patients diagnosed with myelodysplastic syndromes and presenting a deletion of chromosome 5 in their bone marrow cells
You may qualify if:
- Patients diagnosed with del5q MDS isolated or not
- The clinical and biological data are known at the time of diagnosis.
- The clinical and biological data are known 1 year after the diagnosis
- Consent for the collection of samples for research purposes
- Non-opposition obtained
You may not qualify if:
- Patients under judicial protection (guardianship, ...)
- Refusal to participate
Contact the study team to confirm eligibility.
Sponsors & Collaborators
Study Sites (3)
CHRU de Brest
Brest, 29609, France
Groupe Français de cytogénétique Hématologique
Paris, 75000, France
Groupe Français des Myélodysplasies
Paris, 75000, France
Biospecimen
cytogenetic pellets; bone marrow patients cells
MeSH Terms
Conditions
Condition Hierarchy (Ancestors)
Study Officials
- PRINCIPAL INVESTIGATOR
Marie-Bérengère TROADEC
CHRU Brest
Central Study Contacts
Study Design
- Study Type
- observational
- Observational Model
- COHORT
- Time Perspective
- RETROSPECTIVE
- Sponsor Type
- OTHER
- Responsible Party
- SPONSOR
Study Record Dates
First Submitted
January 6, 2021
First Posted
January 8, 2021
Study Start
September 30, 2020
Primary Completion
September 30, 2022
Study Completion
September 30, 2023
Last Updated
January 8, 2021
Record last verified: 2021-01
Data Sharing
- IPD Sharing
- Will share
- Shared Documents
- STUDY PROTOCOL
- Time Frame
- Data will be available beginning three years and ending fifteen years following the publication
- Access Criteria
- Data access requests will be reviewed by the internal committee of Brest UH. Requestors will be required to sign and complete a data access agreement.
All collected data that underlie results in a publication